title: Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies.
abstract: OBJECTIVE
  We sought to compare measurements of circulating cell-free DNA as well as Down syndrome test results in women with naturally conceived pregnancies with those conceived using assisted reproductive technologies.
  
  
  METHODS
  Data regarding assisted reproductive technologies were readily available from seven enrollment sites participating in an external clinical validation trial of nested case/control design. Measurements of circulating cell-free fetal and total DNA, fetal fraction (ratio of fetal to total DNA), chromosome-specific z-scores, and karyotype results were available for analysis.
  
  
  RESULTS
  Analyses were restricted to 632 euploid (5.2% assisted reproductive technologies) and 73 Down syndrome (13.7% assisted reproductive technologies), including 16 twin pregnancies. No differences were found for fetal or total circulating cell-free DNA, or for the fetal fraction in euploid (P = 0.70) or Down syndrome (P = 0.58) pregnancies by method of conception. There appeared to be systematic z-score reductions for chromosomes 21, 18, and 13 in assisted reproductive technologies versus natural euploid pregnancies (P = 0.048, 0.0032, and 0.36, respectively).
  
  
  CONCLUSIONS
  Assisted reproductive technologies and naturally conceived pregnancies contribute similar levels of circulating cell-free DNA into maternal circulation. Small differences in the z-scores of pregnancies achieved by assisted reproductive technologies were observed and do not appear to be test-related artifacts. However, the findings need confirmation before any consideration of changes to testing and reporting protocols.
authors.affiliation: Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island, USA.
authors.forename: Geralyn
authors.initials: G
authors.lastname: Lambert-Messerlian
authors.affiliation: Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island, USA.
authors.forename: Edward M
authors.initials: EM
authors.lastname: Kloza
authors.affiliation: Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, California, USA.
authors.forename: John
authors.initials: J
authors.lastname: Williams
authors.affiliation: IMALAB s.r.o. Medical Laboratories, Zlin, Czech Republic.
authors.forename: Jaroslav
authors.initials: J
authors.lastname: Loucky
authors.affiliation: Department of Obstetrics and Gynecology, Prenatal Diagnosis Center, Women and Infants Hospital and the Alpert Medical School of Brown University, Providence, Rhode Island,USA.
authors.forename: Barbara
authors.initials: B
authors.lastname: O'Brien
authors.affiliation: Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
authors.forename: Louise
authors.initials: L
authors.lastname: Wilkins-Haug
authors.affiliation: Department of Genetics, Yale University, New Haven, Connecticut, USA.
authors.forename: Maurice J
authors.initials: MJ
authors.lastname: Mahoney
authors.affiliation: Istituto G. Gaslini, Genova, Italy.
authors.forename: Pierangela
authors.initials: P
authors.lastname: De Biasio
authors.affiliation: Hospital Clinic Barcelona, Barcelona, Spain.
authors.forename: Antoni
authors.initials: A
authors.lastname: Borrell
authors.affiliation: Sequenom, San Diego, California, USA.
authors.forename: Mathias
authors.initials: M
authors.lastname: Ehrich
authors.affiliation: Sequenom, San Diego, California, USA.
authors.forename: Dirk
authors.initials: D
authors.lastname: van den Boom
authors.affiliation: 1] Sequenom, San Diego, California, USA [2] Sequenom Center for Molecular Medicine, San Diego, California, USA.
authors.forename: Allan T
authors.initials: AT
authors.lastname: Bombard
authors.affiliation: Sequenom Center for Molecular Medicine, San Diego, California, USA.
authors.forename: Cosmin
authors.initials: C
authors.lastname: Deciu
authors.affiliation: Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island, USA.
authors.forename: Glenn E
authors.initials: GE
authors.lastname: Palomaki
mesh_terms: D000782:Aneuploidy; D004247:DNA / Q000097:blood* / Q000235:genetics; D004314:Down Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D011247:Pregnancy; D027724:Reproductive Techniques, Assisted / Q000009:adverse effects*
chemical_list: D004247:DNA